ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.2849A>G (p.Lys950Arg)

dbSNP: rs1815967070
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331907 SCV001524059 uncertain significance Ritscher-Schinzel syndrome 1 2019-11-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989683 SCV004808031 uncertain significance Hereditary spastic paraplegia 8 2024-03-29 criteria provided, single submitter clinical testing

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